DOMINANT HEREDITARY SENSORY NEUROPATHY, TYPE III
\dˈɒmɪnənt hɪɹˈɛdɪtəɹi sˈɛnsəɹˌi njuːɹˈɒpəθɪ], \dˈɒmɪnənt hɪɹˈɛdɪtəɹi sˈɛnsəɹˌi njuːɹˈɒpəθɪ], \d_ˈɒ_m_ɪ_n_ə_n_t h_ɪ_ɹ_ˈɛ_d_ɪ_t_ə_ɹ_i s_ˈɛ_n_s_ə_ɹ_ˌi n_j_uː_ɹ_ˈɒ_p_ə_θ_ɪ]\
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An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4 (2):160-4)
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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.
Nearby Words
- dominant characters
- dominant gene
- dominant genes
- dominant genetic condition
- dominant genetic conditions
- Dominant Hereditary Sensory Neuropathy, Type III
- dominant ichthyosis vulgaris
- dominant idea
- dominant optic atrophies
- dominant optic atrophy
- dominant tenement